title: Thrombotic thrombocytopenic purpura with severe ADAMTS-13 deficiency in a patient with antiphospholipid antibodies and Charcot-Marie-Tooth disease.
abstract: A 26-year-old woman with a history of mild mental retardation, Charcot-Marie-Tooth disease (CMT) and idiopathic thrombocytopenic purpura developed severe thrombocytopenia with Coombs-negative hemolytic anemia. Magnetic resonance imaging revealed a fresh cerebral infarction in the left precentral gyrus. ADAMTS-13 deficiency caused by an inhibitor and anti-cardiolipin antibodies were detected in the blood. After treatment with prednisolone and fresh frozen plasma, ADAMTS-13 activity was normalized, the ADAMTS-13 inhibitor had disappeared and the thrombocytopenia with a bleeding tendency was improved. To our knowledge, this is the first case of thrombotic thrombocytopenic purpura caused by ADAMTS-13 deficiency associated with antiphospholipid antibodies and CMT.
authors.affiliation: Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan.
authors.forename: Mayu
authors.initials: M
authors.lastname: Kosaka
authors.forename: Naoto
authors.initials: N
authors.lastname: Takahashi
authors.forename: Hirobumi
authors.initials: H
authors.lastname: Saitoh
authors.forename: Rie
authors.initials: R
authors.lastname: Masai
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Ito
authors.forename: Ryuta
authors.initials: R
authors.lastname: Sato
authors.forename: Hideki
authors.initials: H
authors.lastname: Wakui
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sawada
mesh_terms: D051722:ADAM Proteins / Q000037:antagonists & inhibitors / Q000097:blood / Q000172:deficiency*; D000071120:ADAMTS13 Protein; D000328:Adult; D017153:Antibodies, Anticardiolipin / Q000097:blood; D016736:Antiphospholipid Syndrome / Q000097:blood / Q000150:complications* / Q000276:immunology; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000276:immunology; D005260:Female; D006801:Humans; D010949:Plasma; D017713:Platelet Transfusion; D011239:Prednisolone / Q000627:therapeutic use; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000209:etiology / Q000276:immunology / Q000628:therapy
chemical_list: D017153:Antibodies, Anticardiolipin; D011239:Prednisolone; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human